(Q44947559)

7 December 2017

title

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. (English)

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congenital myasthenic syndrome

7 December 2017

main subject

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7

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7 December 2017

Katarzyna Zoltowska

1

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author name string

Richard Webster

2

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7 December 2017

Sarah Finlayson

3

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7 December 2017

Susan Maxwell

4

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7 December 2017

Judith Cossins

5

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7 December 2017

Juliane Müller

6

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7 December 2017

David Beeson

8

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7 December 2017

publication date

8 April 2013

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7 December 2017

published in

Human Molecular Genetics

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7 December 2017

volume

22

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7 December 2017

issue

14

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7 December 2017

page(s)

2905-2913

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Congenital myasthenic syndrome: a brief review

7 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Current status of the congenital myasthenic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Glucosamine-6-phosphate synthase--the multi-facets enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Molecular architecture of the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Role for a synapse-specific carbohydrate in agrin-induced clustering of acetylcholine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Glycobiology of the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Expression and characterization of soluble forms of the extracellular domains of the beta, gamma and epsilon subunits of the human muscle acetylcholine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Carbohydrate structures of acetylcholine receptor from Torpedo californica and distribution of oligosaccharides among the subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Site-directed mutagenesis of the conserved N-glycosylation site on the nicotinic acetylcholine receptor subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Altered glycosylation sites of the delta subunit of the acetylcholine receptor (AChR) reduce alpha delta association and receptor assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

N-linked glycosylation is required for nicotinic receptor assembly but not for subunit associations with calnexin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

N-glycosylation at the conserved sites ensures the expression of properly folded functional ACh receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Assembly and N-glycosylation of all ACh receptor subunits are required for their efficient insertion into plasma membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Carbohydrate requirement for expression and stability of acetylcholine receptor on the surface of embryonic muscle cells in culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

O-GlcNAc turns twenty: functional implications for post-translational modification of nuclear and cytosolic proteins with a sugar

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Stable functional expression of the adult subtype of human muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the epsilon subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT145

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT145

1 reference

release_cpxdxv7hsfbb5lhg2zqfjkdueq

7 December 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cpxdxv7hsfbb5lhg2zqfjkdueq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference